Epilepsy-microcephaly-skeletal dysplasia syndrome
Institutions de rang supérieur 0
Conseil génétique 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Berliner Centrum für Seltene Erkrankungen (BCSE) Charité Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
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Institutions de prise en charge 2
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- KBG syndrome
Kleinwachau Sächsisches Epilepsiezentrum Radeberg
Wachauer Straße 30
01454 Radeberg
- Childhood absence epilepsy
- Cerebral malformation with epilepsy
- Infantile spasms syndrome
- Startle epilepsy
- Cerebral diseases of vascular origin with epilepsy
- Other metabolic disease with epilepsy
- ARX-related epileptic encephalopathy
- Chromosomal anomaly with epilepsy as a major feature
- Metabolic diseases with epilepsy
- Epilepsy-telangiectasia syndrome
- Neonatal epilepsy syndrome
- Infantile epilepsy syndrome
- Metal transport or utilization disorder with epilepsy
- Audiogenic seizures